Incidental Mutation 'IGL00562:Trmt10a'
ID277756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt10a
Ensembl Gene ENSMUSG00000004127
Gene NametRNA methyltransferase 10A
Synonyms3110023L08Rik, Rg9mtd2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00562
Quality Score
Status
Chromosome3
Chromosomal Location138143448-138159821 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 138147416 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 13 (E13K)
Ref Sequence ENSEMBL: ENSMUSP00000125681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040321] [ENSMUST00000098580] [ENSMUST00000159481] [ENSMUST00000159622] [ENSMUST00000161141] [ENSMUST00000162864]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040321
AA Change: E13K

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042082
Gene: ENSMUSG00000004127
AA Change: E13K

DomainStartEndE-ValueType
low complexity region 44 82 N/A INTRINSIC
Pfam:tRNA_m1G_MT 111 277 3.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098580
SMART Domains Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
LPD_N 43 594 8.87e-165 SMART
Blast:LPD_N 597 710 6e-58 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000159481
AA Change: E13K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124465
Gene: ENSMUSG00000004127
AA Change: E13K

DomainStartEndE-ValueType
coiled coil region 44 85 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000159622
AA Change: E13K
SMART Domains Protein: ENSMUSP00000130478
Gene: ENSMUSG00000004127
AA Change: E13K

DomainStartEndE-ValueType
low complexity region 44 67 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161141
AA Change: E13K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125681
Gene: ENSMUSG00000004127
AA Change: E13K

DomainStartEndE-ValueType
low complexity region 44 82 N/A INTRINSIC
Pfam:tRNA_m1G_MT 111 165 2.6e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161791
Predicted Effect possibly damaging
Transcript: ENSMUST00000162864
AA Change: E13K

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125749
Gene: ENSMUSG00000004127
AA Change: E13K

DomainStartEndE-ValueType
low complexity region 44 82 N/A INTRINSIC
Pfam:tRNA_m1G_MT 111 277 2.7e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197680
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased circulating magnesium level. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T C 5: 24,997,621 probably benign Het
AU016765 C A 17: 64,519,882 noncoding transcript Het
Chaf1b T C 16: 93,900,191 probably benign Het
Clstn2 A G 9: 97,582,452 probably benign Het
Crip1 T A 12: 113,153,612 probably null Het
Cubn A G 2: 13,294,230 S3211P probably benign Het
Dlx6 C T 6: 6,865,143 R172W probably damaging Het
Fktn A T 4: 53,747,007 probably null Het
Focad T A 4: 88,348,809 M1019K unknown Het
Fuca2 A T 10: 13,505,907 D188V probably damaging Het
Kcna3 A G 3: 107,036,730 D103G probably damaging Het
Mrpl19 A G 6: 81,965,872 V19A probably benign Het
Ndufb3 T A 1: 58,595,799 H103Q possibly damaging Het
Pkd1l3 T C 8: 109,656,147 V1675A possibly damaging Het
Ptger4 A T 15: 5,243,133 S2T probably benign Het
Saxo1 C T 4: 86,445,572 E225K probably damaging Het
Sftpb G T 6: 72,309,862 A228S probably benign Het
Slc22a29 T A 19: 8,161,629 T490S probably benign Het
Slc29a1 T C 17: 45,589,992 N50S probably damaging Het
Smc6 T A 12: 11,301,531 S854T probably benign Het
Smim23 T C 11: 32,821,893 T58A probably benign Het
Tas2r134 T C 2: 51,628,088 I193T possibly damaging Het
Thsd7a G T 6: 12,379,659 probably null Het
Trav13n-4 T G 14: 53,363,966 V64G possibly damaging Het
Txndc11 T C 16: 11,104,632 S239G probably damaging Het
Vmn2r96 T A 17: 18,583,815 N442K probably benign Het
Vps13a C T 19: 16,734,714 probably null Het
Other mutations in Trmt10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Trmt10a APN 3 138147416 missense probably damaging 0.97
IGL00771:Trmt10a APN 3 138150455 missense probably benign 0.08
IGL01140:Trmt10a APN 3 138156698 splice site probably benign
IGL02869:Trmt10a APN 3 138152184 splice site probably null
R0898:Trmt10a UTSW 3 138149518 missense probably damaging 1.00
R0975:Trmt10a UTSW 3 138156809 missense probably benign 0.41
R1511:Trmt10a UTSW 3 138152184 splice site probably null
R1872:Trmt10a UTSW 3 138156720 missense probably damaging 1.00
R4856:Trmt10a UTSW 3 138148385 nonsense probably null
R4880:Trmt10a UTSW 3 138152211 missense possibly damaging 0.64
R4886:Trmt10a UTSW 3 138148385 nonsense probably null
R5399:Trmt10a UTSW 3 138147504 missense probably damaging 0.97
R5516:Trmt10a UTSW 3 138152196 missense possibly damaging 0.91
R5994:Trmt10a UTSW 3 138156714 missense probably damaging 1.00
X0028:Trmt10a UTSW 3 138154795 missense probably damaging 1.00
Posted On2015-04-16